Author ORCID Identifier

0000-0002-9090-7575

Date of Graduation

5-2018

Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Maureen Mork, MS, CGC

Committee Member

Eduardo Vilar-Sanchez, MD, PhD

Committee Member

Yi-Qian Nancy You, MD

Committee Member

Leslie Dunnington, MS, CGC

Committee Member

Sarah Noblin, MS, CGC

Committee Member

Blair Stevens, MS, CGC

Abstract

Individuals who have colorectal cancer (CRC) or endometrial cancer (EC) displaying loss of immunohistochemical (IHC) staining of one or more mismatch repair (MMR) proteins without a causative germline mutation are said to have unexplained mismatch repair deficiency (UMMRD, also known as mutation-negative Lynch syndrome). Comprehensive genetic testing that could potentially further clarify Lynch syndrome (LS) carrier status is essential to provide tailored screening guidelines to affected individuals and their family members; however, patient understanding of the potential impact of updated genetic testing for LS is unclear. This study aimed to evaluate the interest in and perceived impact of updated genetic testing among individuals with UMMRD at a tertiary academic center. A survey evaluating interest in updated genetic testing was mailed to 98 potential participants, and an electronic health record review was completed for the 31 individuals who returned the survey. Results indicate that this population is highly interested in updated genetic testing, and their perceived impact is primarily for family members to have appropriate testing and screening options. Updated risk assessment and genetic counseling, along with a discussion of the benefits and limitations of genetic testing, is essential as the understanding of potential causes of UMMRD evolves. Updated genetic counseling may allow patients with UMMRD to better understand the interpretation of their tumor and germline testing, as well as the impact of comprehensive genetic testing for themselves and their family members.

Keywords

Lynch syndrome, unexplained mismatch repair deficiency, UMMRD, mismatch repair deficiency, mutation-negative Lynch syndrome, Lynch-like syndrome, updated genetic testing, psychosocial issues in genetic testing

Available for download on Saturday, May 04, 2019

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Genetics Commons

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